chr17:41258472 C>T
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.212+1G>A
- Protein
- Function
- splicing
- Localization
- splice site
- hg19
- chr17:41258472 C>T
- dbSNP
- rs80358042
Синонимы
- Transcript
- cDNA
- Protein
- NM_007300.3
- c.212+1G>A
- NM_007297.3
- c.71+1G>A
- NM_007299.3
- c.212+1G>A
- NM_007298.3
- c.212+1G>A
- NR_027676.1
- n.351+23G>A
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- 0.00002996
- AFR
- –
- 0
- AMR
- –
- 0.00002996
- ASJ
- –
- 0
- EAS
- –
- 0
- FIN
- –
- 0
- NFE
- –
- 0
- SAS
- –
- 0
ClinVar
- ID
- Phenotype
- Effect
- RCV000031027.6
- Breast-ovarian cancer, familial 1
- Pathogenic
- RCV000509688.2
- Hereditary cancer-predisposing syndrome
- Pathogenic
- RCV000505828.1
- not provided
- Pathogenic
- RCV000496861.1
- Hereditary breast and ovarian cancer syndrome
- Pathogenic
HGMD
- ID
- Phenotype
- Effect
- CS951355
- Breast cancer
- DM